Duane retraction syndrome associated with variant of Rubinstein-Taybi syndrome.

Purpose: This case report describes a child with Duane retraction syndrome (DRS) associated with genetically confirmed Type II Rubinstein-Taybi syndrome (RTS). The purpose is to better understand the ocular manifestations of RTS and further explore the possibility that the neurodevelopmental genetic abnormality in RTS may sporadically impact ocular motor nerves.

Observations: A 2-year-old male with a history of Type II RTS associated with a de novo variant of presented for a comprehensive eye examination, which revealed a left esotropia of 20 prism diopters (PD) in primary gaze with a significant left face turn, mild globe retraction on adduction in the left eye, and abduction limitation consistent with Type 1 DRS in the left eye.

Y-split Recession of Lateral Rectus With and Without Medial Rectus Recession in the Management of Exotropic Duane Retraction Syndrome With Significant Overshoot and Retraction.

Purpose: To compare the effectiveness of two surgical approaches in the management of exotropic Duane retraction syndrome (DRS) cases with significant overshoot and retraction.

Methods: A retrospective analysis was conducted on patients with exotropic DRS who experienced significant overshoot and globe retraction. Patients with incomplete medical records or previous strabismus surgery were excluded.

Trigemino-abducens synkinesis: serial review over 4 years.

Congenital cranial dysinnervation disorders involve abberant connections between cranial nerves, often resulting in synkinetic activation of target muscles. Marcus-Gunn jaw winking ptosis and Duane retraction syndrome are some of the more well-known examples of this phenomenon. We present serial video of a child with congenital trigemino-abducens synkinesis, a lesser known congenital cranial dysinnervation disorder, to demonstrate the characteristics of this likely under-diagnosed presentation.

Angiographically silent macular retinoschisis and vitreomacular traction in a patient with same - side Duane retraction syndrome.

To report the unusual fundus features of a case with unilateral Duane retraction syndrome (DRS) with same-side extensive macular retinoschisis. A 75-year-old woman was diagnosed to have DRS type 3 and several multimodal fundus imaging modalities were performed. There was limited abduction and adduction, globe retraction, and narrowing of the palpebral fissure on the adduction of the left eye without a compensatory face turn.

Lateral Rectus Disabling and Simultaneous Modified Nishida Procedure for Exotropic Duane Retraction Syndrome.

Exotropic-Duane Syndrome (XT-DRS) is a congenital cranial nerve dysinnervation disorder characterized by exotropia, anomalous head posture (contralateral face turn), limited adduction, globe retraction, palpebral fissure narrowing, upshoot and downshoot in adduction, and varying levels of limitation of abduction. Patients with XT-DRS often have poor convergence because attempted convergence induces co-contraction of the lateral rectus muscle (LR) due to anomalous LR innervation. We describe two patients with XT-DRS who underwent simultaneous lateral rectus muscle (LR) disinsertion and periosteal fixation (LRDAPF) and modified Nishida procedure (MNP) and discuss their outcome.

Summer scour syndrome in weaned dairy calves: case series.

Background: Summer scour syndrome (SSS) is a recently identified pathological condition affecting weaned dairy and dairy-beef calves during their first grazing season in Ireland. The syndrome is characterised by diarrhoea, weight loss, weakness, and can ultimately lead to death in some calves. Oral and oesophageal ulcerations are present in some cases.

Duane syndrome in association with congenital disorder of glycosylation type Ig (ALG12-CDG).

Congenital disorders of glycosylation type I (CDG-I) are a group of autosomal recessive genetic multisystem disorders that arise from defective glycoprotein biosynthesis. Although ocular abnormalities have been described in patients with CDG-I, few ocular abnormalities have been associated with ALG12-CDG (CDG-Ig), a rare subtype of CDG-I. We report a case of Duane syndrome, a congenital strabismus syndrome, in a 17-year-old young woman with ALG12-CDG.

Rates of Reoperation in Duane Retraction Syndrome.

Purpose: To investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane retraction syndrome (DRS).

Design: Retrospective cohort analysis.

Participants: An insurance claims data set was used to identify patients diagnosed with DRS between 2007 and 2021.

Relationship between retraction and refraction values in patients with Duane's retraction syndrome.

Purpose: To evaluate refractive findings in patients with unilateral Duane's retraction syndrome (DRS).

Methods: This retrospective study included 40 patients followed for unilateral DRS. Detailed ophthalmological examinations of the patients were performed.

MRI evaluation of cranial nerve abnormalities and extraocular muscle fibrosis in duane retraction syndrome and congenital extraocular muscle fibrosis.

Purpose: To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process.

Methods: A case-control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination.

Two cases of Duane retraction syndrome with abnormal orbital structures.

Duane retraction syndrome (DRS) is a rare congenital nonprogressive restrictive strabismus. The absence/hypoplasia of the abducens nerve and the aberrant innervation of the lateral rectus muscle by the oculomotor nerve have been hypothesized as causes of DRS, although the phenomenon of globe retraction can also occur in the setting of mechanical factors, such as congenital abnormal orbital structures or orbital trauma. We present the cases of 2 DRS patients with absent abducens nerve and abnormal muscular bands connecting the superior rectus and inferior rectus muscles on the temporal side of the optic nerve.

An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome.

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease due to a severely impaired central control of breathing and dysfunction of the autonomic nervous system. Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. We report a unique case of CCHS in association with monocular elevation deficit (MED) in a boy diagnosed with CCHS at birth.

Case report: Identification of a novel variant p.Gly215Arg in the gene causing Moebius syndrome.

Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, and have been identified to cause MBS.

Iatrogenic Pseudo-Duane Retraction Syndrome Following Orbitozygomatic Craniotomy.

Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The authors describe a 58-year-old woman who after craniotomy developed incomitant left exotropia with an adduction deficit; the globe retracted and palpebral fissure narrowed with attempted ocular adduction.

Identification of four latent classes of acute respiratory distress syndrome using PaO/FO ratio: an observational cohort study.

Biological phenotypes in patients with the acute respiratory distress syndrome (ARDS) have previously been described. We hypothesized that the trajectory of PaO/FO ratio could be used to identify phenotypes of ARDS. We used a retrospective cohort analysis of an ARDS database to identify latent classes in the trajectory of PaO/FO ratio over time.

Duane syndrome: An overview on the current management.

Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on attempted adduction and narrowing of the palpebral aperture. It is now listed as a congenital cranial dysinnervation disorder. The disease is usually unilateral with female preponderance.

Refractive features and amblyopia in Duane's Retraction Syndrome: A review of the 582 patients.

Purpose: To report the visual and refractive characteristics and the prevalence of amblyopia in patients with different types of Duane's Retraction Syndrome (DRS).

Method: This retrospective study was performed on hospital records of 582 DRS patients at Farabi Hospital, Iran, from 2012 to March 2022.

Results: The mean age of patients was 19.

Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome.

Background: 48, XXYY syndrome is a rare sex chromosome aneuploidy with severe systemic features. Ophthalmic manifestation of 48, XXYY syndrome include hypertelorism, epicanthic folds, hooded eye lids, strabismus, retinitis pigmentosa and Duane's syndrome.

Case: We present mild foveal hypoplasia in a 12-year-old boy with 48, XXYY syndrome using swept-source optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA).

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence.

The Association of Incidental Radiation Dose to the Heart Base with Overall Survival and Cardiac Events after Curative-intent Radiotherapy for Non-small Cell Lung Cancer: Results from the NI-HEART Study.

Aims: Cardiac disease is a dose-limiting toxicity in non-small cell lung cancer radiotherapy. The dose to the heart base has been associated with poor survival in multiple institutional and clinical trial datasets using unsupervised, voxel-based analysis. Validation has not been undertaken in a cohort with individual patient delineations of the cardiac base or for the endpoint of cardiac events.